ClinVar Miner

Submissions for variant NM_000203.5(IDUA):c.416A>C (p.His139Pro)

dbSNP: rs2153021706
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001888860 SCV002150869 uncertain significance Mucopolysaccharidosis type 1 2021-10-09 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with IDUA-related conditions. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt IDUA protein function. This variant is not present in population databases (ExAC no frequency). This sequence change replaces histidine with proline at codon 139 of the IDUA protein (p.His139Pro). The histidine residue is weakly conserved and there is a moderate physicochemical difference between histidine and proline.
Revvity Omics, Revvity RCV003130577 SCV003817617 uncertain significance not provided 2021-08-27 criteria provided, single submitter clinical testing

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